L1088F (p.Leu1088Phe) variant of AGRN (Agrin)
L1088F (p.Leu1088Phe) in AGRN (Agrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 8; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and published literature.
L1088F (p.Leu1088Phe) variant details
- p.Leu1088Phe
- rs150132566
- UniProt VAR 068732
- Uncertain significance
- Congenital myasthenic syndrome 8; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -0.94
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (not provided; Congenital myasthenic syndrome 8)
- UniProt: Uncertain significance (in dbSNP:rs150132566)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. (PMID 19631309)